Abstract

Background: Newborn screening saves lives and can ensure better survivability, as it detects the disorders at the earliest and helps in preventing serious consequences that may arise in the future.

Objective: To present data on NBS from our tertiary centers along with the success of implementing therapy and follow up.

Methods: We retrospectively reviewed NBS data from January 2005 to May 2020 from three tertiary centers. The incidence of congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), galactosemia, glucose 6 phosphate dehydrogenase (G6PD) deficiency, amino acids/urea cycle disorder, fatty acid/organic acid disorder, cystic fibrosis, biotinidase deficiency and phenylketonuria (PKU) among neonates was recorded. We also report on their follow up to explain its implications.

Results: A total of 668,327 neonates were screened for fifty conditions. While hemoglobinopathies (1:70 of 28392 total screens) had the highest presumptive incidence followed by G6PD deficiency (1:280 of 98,052 total screens), phenylketonuria (1:16,408 of 57,675 total screens), followed by galactosemia (1:7188 of 933,318 total screens) and biotinidase deficiency (1:5440 of 63,598 total screens) had the lowest incidence. The incidence of CH and CAH was found to be 1:594 from 102,903 total screens and 1:4567 from 95,155 total screens, respectively. Metabolic conditions though individually rare, collectively accounted for significant numbers.

Conclusion: The current study highlights the incidence of several conditions including hemoglobinopathies, G6PD deficiency, congenital hypothyroidism (CH) and congenital adrenal hyperplasia over one and a half decades in a large pool of neonates. This study also demonstrates the feasibility of early testing of screen positive neonates and establishing a complete diagnosis and initiating therapy in the recommended time.

Keywords: Dried Blood Spot; Inborn Errors of Metabolism; Newborn Screening; Neonatal Disorder

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